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Turkish Journal of Medical Sciences 2023Temporomandibular Disorders (TMD), as in the occurrence of many diseases, have been associated with oxidative stress (OS) resulting from the disruption of antioxidant...
BACKGROUND/AIM
Temporomandibular Disorders (TMD), as in the occurrence of many diseases, have been associated with oxidative stress (OS) resulting from the disruption of antioxidant mechanisms and the accumulation of reactive oxygen species in tissues. This study was designed to compare salivary and serum OS and inflammation markers of individuals with TMD and healthy subjects.
MATERIALS AND METHODS
A prospective cross-sectional study was conducted. Twenty-seven TMD patients diagnosed with disc displacement (DD) according to Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) and 17 healthy subjects were enrolled in the study. Prior to any treatment, serum, and saliva samples were taken from the patients and centrifuged, and stored at -80 °C until analyzed. All samples were examined for Interleukin-6 (IL-6), Malondialdehyde (MDA), and 8-hydroxydeoxyguanosine (8-OHdG) concentrations.
RESULTS
There was no significant difference between the groups regarding median values of 8-OHdG, IL-6, and MDA (p > 0.05). When the relationship between serum and salivary 8-OHdG, IL-6, and MDA levels in all subjects was evaluated, there was a strong positive correlation between the levels of 8-OHdG and IL-6 in the serum (r = 0.752, p <0.001). In the study group, when the relationship between pain levels and serum and saliva 8-OHdG, IL-6, and MDA levels was assessed, a positive and strong correlation was found between the levels of 8-OHdG and IL-6 in serum.
CONCLUSION
Although the strong correlation between pain scores and serum 8-OHdG and MDA levels supports the hypothesis that inflammation and OS mechanisms may be interrelated, according to the results of the study, inflammatory and OS markers in patients with TMD were not different from healthy individuals.
Topics: Humans; Oxidative Stress; Saliva; Temporomandibular Joint Disorders; Female; Adult; Male; Cross-Sectional Studies; Biomarkers; Interleukin-6; Prospective Studies; Malondialdehyde; Inflammation; 8-Hydroxy-2'-Deoxyguanosine; Young Adult; Middle Aged
PubMed: 38813510
DOI: 10.55730/1300-0144.5737 -
Turkish Journal of Medical Sciences 2023To compare the effectiveness of instrument-assisted soft tissue mobilization (IASTM) and extracorporeal shock wave therapy (ESWT) used in myofascial pain syndrome (MPS)... (Randomized Controlled Trial)
Randomized Controlled Trial Comparative Study
BACKGROUND/AIM
To compare the effectiveness of instrument-assisted soft tissue mobilization (IASTM) and extracorporeal shock wave therapy (ESWT) used in myofascial pain syndrome (MPS) and to determine whether they are superior to conservative treatment (CT).
MATERIALS AND METHODS
A total of 42 female patients (aged 18-60 years) diagnosed with MPS were enrolled and randomly assigned to either the CT (n = 14), CT+IASTM (n = 14), or CT+ESWT group (n = 14). All of the groups received treatment for 3 weeks (CT: 5 sessions per week, 15 sessions in total, ESWT and IASTM: 2 sessions per week, 6 sessions in total). Neck stretching exercises were given to all of the patients as a home program. The pain intensity of the patients was determined using the visual analog scale (VAS). The pressure pain threshold (PPT) was measured with an algometer. Cervical joint range of motion (ROM) was measured with a cervical ROM (CROM) device. Pain, cervical disability, quality of life, and sleep disturbances were evaluated with the Neck Outcome Score (NOOS). Depression and anxiety parameters were evaluated with the Hospital Anxiety and Depression Scale (HADS). Evaluations were made before treatment and 3 days after the last treatment session.
RESULTS
The CT+IASTM group was more successful than the other groups in terms of pain intensity, PPT, and improvements in the ROM parameters (p < 0.05). No significant difference was found between the NOOS and HADS scores of the groups when the posttreatment changes were compared to pretreatment (p > 0.05).
CONCLUSIONS
All 3 of these treatments can be used to alleviate the negative effects of MPS. IASTM treatment can be preferred primarily in the creation of combined treatment programs for patients with ROM limitations and low PPTs.
Topics: Humans; Female; Adult; Extracorporeal Shockwave Therapy; Myofascial Pain Syndromes; Middle Aged; Young Adult; Treatment Outcome; Range of Motion, Articular; Adolescent; Pain Measurement; Quality of Life; Therapy, Soft Tissue
PubMed: 38813497
DOI: 10.55730/1300-0144.5753 -
Turkish Journal of Medical Sciences 2023Children with cerebral palsy (CP), even those who have very mild impairment, have lower muscle strength than their typically developing peers. The ankle dorsiflexors... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND/AIM
Children with cerebral palsy (CP), even those who have very mild impairment, have lower muscle strength than their typically developing peers. The ankle dorsiflexors (DFs) and plantarflexors (PFs) of children with CP are especially weak. Weakness in the ankle muscles causes problems in functional skills, mobility, and balance in spastic CP (SCP). The aim of this study was to investigate the effects of progressive functional exercises (PFEs) on the DF, PF, or dorsi-plantar flexor (DPF) muscles in children with SCP, specifically, the functional mobility, balance, and maximum voluntary contraction (MVC), and compare the effects of strengthening these muscles individually or combined.
MATERIALS AND METHODS
This randomized trial was conducted between December 1st, 2018, and May 15th, 2019, at Gazi University, Department of Physiotherapy and Rehabilitation. Randomly assigned into groups were 27 independently ambulant patients with unilateral/bilateral SCP, where PFEs were applied to the DF, PF, or DPF muscles. Muscle tone, balance, and functional mobility were assessed. The MVC was evaluated by surface electromyography. PFEs were performed 4 times a week, for 6 weeks.
RESULTS
The spasticity of the PF muscles decreased in all of the groups. PFE of the DF muscles led to an increase in ankle joint range of motion (ROM) and improved functional mobility (p < 0.05). PFE of the PF muscles resulted in improvements in balance and functional mobility (p < 0.05). PFE of the DPF muscles brought about improvements in balance but not in functional mobility (p < 0.05). No significant difference in the MVC was observed in any of the groups (p > 0.05).
CONCLUSION
Gains are obtained according to the function of a muscle group. By training the DF muscles, it is possible to improve function and ROM. Furthermore, training the PF muscles led to improvements in balance and functional mobility, indicating that it is possible to bring about positive changes in spastic muscles. This study showed that muscle groups must be exercised according to the intended goal.
Topics: Humans; Cerebral Palsy; Male; Female; Child; Exercise Therapy; Muscle Spasticity; Muscle, Skeletal; Ankle Joint; Range of Motion, Articular; Ankle; Electromyography; Muscle Strength; Adolescent
PubMed: 38812998
DOI: 10.55730/1300-0144.5682 -
Frontiers in Cellular Neuroscience 2024Muscular dystrophies are a devastating class of diseases that result in a progressive loss of muscle integrity. Duchenne Muscular Dystrophy, the most prevalent form of...
Muscular dystrophies are a devastating class of diseases that result in a progressive loss of muscle integrity. Duchenne Muscular Dystrophy, the most prevalent form of Muscular Dystrophy, is due to the loss of functional Dystrophin. While much is known regarding destruction of muscle tissue in these diseases, much less is known regarding the synaptic defects that also occur in these diseases. Synaptic defects are also among the earliest hallmarks of neurodegenerative diseases, including the neuromuscular disease Amyotrophic Lateral Sclerosis (ALS). Our current study investigates synaptic defects within adult muscle tissues as well as presynaptic motor neurons in Drosophila mutants. Here we demonstrate that the progressive, age-dependent loss of flight ability in mutants is accompanied by disorganization of Neuromuscular Junctions (NMJs), including impaired localization of both presynaptic and postsynaptic markers. We show that these synaptic defects, including presynaptic defects within motor neurons, are due to the loss of Dystrophin specifically within muscles. These results should help to better understand the early synaptic defects preceding cell loss in neuromuscular disorders.
PubMed: 38812789
DOI: 10.3389/fncel.2024.1381112 -
Turkish Journal of Medical Sciences 2024There are no current guidelines to help clinicians decide whether patients with adult neuromuscular disease (NMD) should be screened or treated for osteoporosis (OP)....
BACKGROUND/AIM
There are no current guidelines to help clinicians decide whether patients with adult neuromuscular disease (NMD) should be screened or treated for osteoporosis (OP). This study was undertaken to investigate the presence of OP in patients with various types of NMD and to examine the relationship between OP evaluation parameters and functional status, daily living activities, balance, and ambulation levels.
MATERIALS AND METHODS
This cross-sectional study included 45 patients with NMDs. The patients were divided into 3 groups, depending on the affected component of the motor unit (neuronopathy group, neuropathy group, and myopathy group). The laboratory and demographic data were recorded from patient files. Functional level, pain, muscular strength, balance, and daily living activity scores were evaluated. The presence of OP was quantified using bone densitometry, fracture history, and biochemical parameters. Clinical findings were correlated with laboratory and dual-energy X-ray absorptiometry (DEXA) findings.
RESULTS
The mean hip T-score was -1.20, and the mean lumbar spine (L1-L4) T-score was -0.95 in all groups. Six patients with T-score values of -2.5 or below were detected. Vitamin D level was found to be low in all patient groups, especially in the myopathy group, but there was no significant difference (p > 0.05). There was a negative correlation between hip T-score and the frequency of falling (r = -0.604, p = 0.022), while a positive correlation was found between hip T-score and the age at which independent walking was no longer possible (r = 0.900, p = 0.037).
CONCLUSION
OP is often overlooked in NMD patients with neurological problems and a high risk of falling. These patients should be screened for bone health and fragility.
Topics: Humans; Male; Female; Osteoporosis; Cross-Sectional Studies; Neuromuscular Diseases; Middle Aged; Adult; Bone Density; Absorptiometry, Photon; Aged; Activities of Daily Living; Lumbar Vertebrae
PubMed: 38812650
DOI: 10.55730/1300-0144.5794 -
Turkish Journal of Medical Sciences 2024Calpainopathy, also known as limb-girdle muscular dystrophy recessive type 1, is a progressive muscle disorder that impacts the muscles around the hips and shoulders....
BACKGROUND AND AIM
Calpainopathy, also known as limb-girdle muscular dystrophy recessive type 1, is a progressive muscle disorder that impacts the muscles around the hips and shoulders. The disease is caused by defects in the gene and can be inherited in both recessive and dominant forms. In this retrospective study, we aimed to evaluate the clinical and molecular results of our patients with calpainopathy and to examine the variants in Turkish and global populations.
MATERIALS AND METHODS
Molecular analyses were performed using the next-generation sequencing (NGS) method. variants were identified through the examination of various databases.
RESULTS
In this retrospective study, the cohort consisted of seven patients exhibiting the (NM_000070.3) mutation and a phenotype compatible with calpainopathy at a single center in Türkiye. All patients displayed high CK levels and muscle weakness. We report a novel missense c.2437G>A variant that causes the autosomal dominant form of calpainopathy. Interestingly, the muscle biopsy report for the patient with the novel mutation indicated sarcoglycan deficiency. Molecular findings for the remaining individuals in the cohort included a compound heterozygous variant (frameshift and missense), one homozygous nonsense, one homozygous intronic deletion, and three homozygous missense variants. The most common variant in the Turkish population was c.550del. In both populations, pathogenic variants were most frequently located in exon 21, according to exon length. Variants were stochastically distributed based on consequences in CAPN3 domains.
CONCLUSION
Therefore, the NGS method proves highly effective in diagnosing rare diseases characterized by clinical heterogeneity. Assessing variants based on ethnicity holds significance in the development of precise therapies.
Topics: Humans; Retrospective Studies; Muscular Dystrophies, Limb-Girdle; Turkey; Male; Calpain; Female; Muscle Proteins; Adult; Young Adult; Adolescent; Mutation; Middle Aged; Child; Cohort Studies; High-Throughput Nucleotide Sequencing
PubMed: 38812636
DOI: 10.55730/1300-0144.5769 -
Skeletal Muscle May 2024Intramuscular fat (IMAT) infiltration, pathological adipose tissue that accumulates between muscle fibers, is a shared hallmark in a diverse set of diseases including... (Comparative Study)
Comparative Study
Intramuscular fat (IMAT) infiltration, pathological adipose tissue that accumulates between muscle fibers, is a shared hallmark in a diverse set of diseases including muscular dystrophies and diabetes, spinal cord and rotator cuff injuries, as well as sarcopenia. While the mouse has been an invaluable preclinical model to study skeletal muscle diseases, they are also resistant to IMAT formation. To better understand this pathological feature, an adequate pre-clinical model that recapitulates human disease is necessary. To address this gap, we conducted a comprehensive in-depth comparison between three widely used mouse strains: C57BL/6J, 129S1/SvlmJ and CD1. We evaluated the impact of strain, sex and injury type on IMAT formation, myofiber regeneration and fibrosis. We confirm and extend previous findings that a Glycerol (GLY) injury causes significantly more IMAT and fibrosis compared to Cardiotoxin (CTX). Additionally, females form more IMAT than males after a GLY injury, independent of strain. Of all strains, C57BL/6J mice, both females and males, are the most resistant to IMAT formation. In regard to injury-induced fibrosis, we found that the 129S strain formed the least amount of scar tissue. Surprisingly, C57BL/6J of both sexes demonstrated complete myofiber regeneration, while both CD1 and 129S1/SvlmJ strains still displayed smaller myofibers 21 days post injury. In addition, our data indicate that myofiber regeneration is negatively correlated with IMAT and fibrosis. Combined, our results demonstrate that careful consideration and exploration are needed to determine which injury type, mouse model/strain and sex to utilize as preclinical model especially for modeling IMAT formation.
Topics: Animals; Male; Female; Mice, Inbred C57BL; Regeneration; Muscle, Skeletal; Mice; Adipose Tissue; Fibrosis; Disease Models, Animal; Sex Characteristics; Species Specificity; Glycerol; Mice, 129 Strain
PubMed: 38812056
DOI: 10.1186/s13395-024-00344-4 -
Respiratory Research May 2024To investigate the association of serum anti-Jo-1 antibody levels with the disease activity and prognosis in anti-Jo-1-positive patients with antisynthetase syndrome...
OBJECTIVE
To investigate the association of serum anti-Jo-1 antibody levels with the disease activity and prognosis in anti-Jo-1-positive patients with antisynthetase syndrome (ASS).
METHODS
This study included 115 anti-Jo-1-positive patients with ASS who were admitted to China-Japan Friendship Hospital between 2009 and 2019. Anti-Jo-1 antibody serum levels at initial admission and follow-up were determined by enzyme-linked immunosorbent assay (ELISA). Global and organ disease activity was assessed at baseline and follow-up according to the International Myositis Assessment and Clinical Studies guidelines.
RESULTS
Among enrolled patients, 70 (60.9%) patients initially presented with interstitial lung disease (ILD), and 46 (40%) patients presented with with muscle weakness at initial admission. At baseline, patients with ILD had lower levels of anti-Jo-1 antibodies than those without ILD (p = 0.012). Baseline anti-Jo-1 antibody levels were higher in patients with muscle weakness, skin involvement, and arthritis (all p < 0.05) compared to those without these manifestations. Baseline anti-Jo-1 antibody levels were positively correlated with skin visual analogue scale (VAS) scores (r = 0.25, p = 0.006), but not with disease activity in other organs. However, changes in anti-Jo-1 antibody levels were significantly positively correlated with the changes in PGA (β = 0.002, p = 0.001), muscle (β = 0.003, p < 0.0001), and pulmonary (β = 0.002, p = 0.013) VAS scores, but not with skin and joint VAS scores. Older age of onset (hazard ratio [HR] 1.069, 95% confidence interval [CI]:1.010-1.133, p = 0.022) and higher C-reactive protein (CRP) levels (HR 1.333, 95% CI: 1.035-1.717, p = 0.026) were risk factors for death.
CONCLUSION
Anti-Jo-1 titers appear to correlate more with disease activity changes over time rather than with organ involvement at baseline, which provides better clinical guidance for assessing the disease course using anti-Jo-1 levels.
Topics: Humans; Myositis; Male; Female; Middle Aged; Prognosis; Adult; Antibodies, Antinuclear; Follow-Up Studies; Aged; Retrospective Studies; Biomarkers; Lung Diseases, Interstitial
PubMed: 38811943
DOI: 10.1186/s12931-024-02851-w -
Science Advances May 2024Structural maintenance of chromosomes flexible hinge domain-containing 1 (SMCHD1) is a noncanonical SMC protein and an epigenetic regulator. Mutations in SMCHD1 cause...
Structural maintenance of chromosomes flexible hinge domain-containing 1 (SMCHD1) is a noncanonical SMC protein and an epigenetic regulator. Mutations in SMCHD1 cause facioscapulohumeral muscular dystrophy (FSHD), by overexpressing DUX4 in muscle cells. Here, we demonstrate that SMCHD1 is a key regulator of alternative splicing in various cell types. We show how SMCHD1 loss causes splicing alterations of DNMT3B, which can lead to hypomethylation and DUX4 overexpression. Analyzing RNA sequencing data from muscle biopsies of patients with FSHD and Smchd1 knocked out cells, we found mis-splicing of hundreds of genes upon SMCHD1 loss. We conducted a high-throughput screen of splicing factors, revealing the involvement of the splicing factor RBM5 in the mis-splicing of DNMT3B. Subsequent RNA immunoprecipitation experiments confirmed that SMCHD1 is required for RBM5 recruitment. Last, we show that mis-splicing of DNMT3B leads to hypomethylation of the D4Z4 region and to DUX4 overexpression. These results suggest that DNMT3B mis-splicing due to SMCHD1 loss plays a major role in FSHD pathogenesis.
Topics: Muscular Dystrophy, Facioscapulohumeral; Humans; DNA Methyltransferase 3B; Homeodomain Proteins; DNA (Cytosine-5-)-Methyltransferases; Chromosomal Proteins, Non-Histone; DNA Methylation; Alternative Splicing; RNA-Binding Proteins; RNA Splicing; Gene Expression Regulation
PubMed: 38809976
DOI: 10.1126/sciadv.adn7732 -
CoDAS 2024To analyze the sensation of pain and the range of mandibular movements of adult individuals with temporomandibular disorder, before and after the application of the... (Randomized Controlled Trial)
Randomized Controlled Trial
PURPOSE
To analyze the sensation of pain and the range of mandibular movements of adult individuals with temporomandibular disorder, before and after the application of the athletic tape.
METHOD
This is a double-blind randomized clinical trial, in which 22 adults with temporomandibular disorder participated, randomly allocated into two groups, with group A comprising 10 women and one man (mean age 28.2±8.3 years) and group B comprising nine women and two men (mean age 26.2±3.9 years). Group A was submitted to the application of the athletic tape on the masseter with 40% stretch and the group B to the application of the athletic tape on the masseter without stretching. All participants underwent the application of the Diagnostic Criteria for Temporomandibular Disorders (DC/TMD). Pain threshold assessment was performed using an algometer to apply pressure to measurement points. The measurement of mandibular movements was performed using a caliper. The athletic tape was glued using the I technique, with a fixed point over the insertion and a movable point over the origin of the masseter muscle. Participants remained with the athletic tape for 24 hours and were re-evaluated.
RESULTS
There was pain relief in the group A in the temporomandibular joint on the right and at the origin of the masseter on the left. The group B showed a reduction in pain in the left anterior temporal region. No differences were found in mandibular movements after intervention, as well as no difference was found in the comparison by groups.
CONCLUSION
The use of the athletic tape over the masseter muscle, with stretching, for 24 hours produced relief from the sensation of pain, on the origin of the right masseter and in the right temporomandibular joint, and, without stretching, in the left anterior temporal muscle. There was no difference in the range of mandibular movements.
Topics: Humans; Female; Adult; Double-Blind Method; Male; Facial Pain; Temporomandibular Joint Disorders; Masseter Muscle; Athletic Tape; Young Adult; Range of Motion, Articular; Pain Measurement; Pain Threshold; Mandible
PubMed: 38808856
DOI: 10.1590/2317-1782/20242023066pt